(Q34237629)

Andrew Oliver Mungo Wilkie

inferred from title

author

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24

1 reference

3 June 2020

Martin S. Taylor

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74

1 reference

3 June 2020

Sahar Mansour

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17

1 reference

3 June 2020

Emma Wakeling

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38

1 reference

3 June 2020

Katta Mohan Girisha

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42

1 reference

3 June 2020

Andrew Green

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69

1 reference

3 June 2020

Christoffer Nellåker

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73

1 reference

3 June 2020

David R. FitzPatrick

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75

1 reference

3 June 2020

44

Helen V Firth

1 reference

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3 June 2020

11

Raoul C M Hennekam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Maria Bitner-Glindzicz

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71

object named as

Maria Bitner-Glindzicz

1 reference

3 June 2020

author name string

Morad Ansari

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1

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3 June 2020

Gemma Poke

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2

1 reference

3 June 2020

Quentin Ferry

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3

1 reference

3 June 2020

Kathleen Williamson

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4

1 reference

3 June 2020

Roland Aldridge

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5

1 reference

3 June 2020

Alison M Meynert

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6

1 reference

3 June 2020

Hemant Bengani

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7

1 reference

3 June 2020

Cheng Yee Chan

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8

1 reference

3 June 2020

Sahin Avci

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10

1 reference

3 June 2020

Anne K Lampe

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12

1 reference

3 June 2020

Egbert Redeker

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13

1 reference

3 June 2020

Tessa Homfray

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14

1 reference

3 June 2020

Alison Ross

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15

1 reference

3 June 2020

Marie Falkenberg Smeland

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16

1 reference

3 June 2020

Michael J Parker

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18

1 reference

3 June 2020

Jacqueline A Cook

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19

1 reference

3 June 2020

Miranda Splitt

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20

1 reference

3 June 2020

Richard B Fisher

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21

1 reference

3 June 2020

Alan Fryer

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22

1 reference

3 June 2020

Alex C Magee

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23

1 reference

3 June 2020

Angela Barnicoat

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25

1 reference

3 June 2020

Angela F Brady

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26

1 reference

3 June 2020

Nicola S Cooper

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27

1 reference

3 June 2020

Catherine Mercer

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28

1 reference

3 June 2020

Charu Deshpande

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29

1 reference

3 June 2020

Christopher P Bennett

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30

1 reference

3 June 2020

Daniela T Pilz

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31

1 reference

3 June 2020

Deborah Ruddy

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32

1 reference

3 June 2020

Deirdre Cilliers

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33

1 reference

3 June 2020

Diana S Johnson

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34

1 reference

3 June 2020

Dragana Josifova

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35

1 reference

3 June 2020

Elisabeth Rosser

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36

1 reference

3 June 2020

Elizabeth M Thompson

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37

1 reference

3 June 2020

Esther Kinning

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39

1 reference

3 June 2020

Fiona Stewart

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40

1 reference

3 June 2020

Frances Flinter

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41

1 reference

3 June 2020

Helen Cox

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43

1 reference

3 June 2020

Helen Kingston

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45

1 reference

3 June 2020

Jamie S Wee

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46

1 reference

3 June 2020

Jane A Hurst

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47

1 reference

3 June 2020

Jill Clayton-Smith

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48

1 reference

3 June 2020

John Tolmie

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49

1 reference

3 June 2020

Julie Vogt

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50

1 reference

3 June 2020

Katrina Tatton-Brown

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51

1 reference

3 June 2020

Kate Chandler

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52

1 reference

3 June 2020

Katrina Prescott

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53

1 reference

3 June 2020

Louise Wilson

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54

1 reference

3 June 2020

Mahdiyeh Behnam

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55

1 reference

3 June 2020

Meriel McEntagart

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56

1 reference

3 June 2020

Rosemarie Davidson

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57

1 reference

3 June 2020

Sally-Ann Lynch

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58

1 reference

3 June 2020

Sanjay Sisodiya

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59

1 reference

3 June 2020

Sarju G Mehta

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60

1 reference

3 June 2020

Shane A McKee

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61

1 reference

3 June 2020

Shehla Mohammed

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62

1 reference

3 June 2020

Simon Holden

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63

1 reference

3 June 2020

Soo-Mi Park

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64

1 reference

3 June 2020

Susan E Holder

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65

1 reference

3 June 2020

Victoria Harrison

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66

1 reference

3 June 2020

Vivienne McConnell

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67

1 reference

3 June 2020

Wayne K Lam

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68

1 reference

3 June 2020

Dian Donnai

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70

1 reference

3 June 2020

Deirdre E Donnelly

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72

1 reference

3 June 2020

Hülya Kayserili

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9

1 reference

Journal of Medical Genetics

3 June 2020

language of work or name

English

0 references

publication date

14 August 2014

1 reference

31 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

659-668

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

10

1 reference

Diagnostically relevant facial gestalt information from ordinary photos

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

A cohesin-independent role for NIPBL at promoters provides insights in CdLS.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Quantifying single nucleotide variant detection sensitivity in exome sequencing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

RAD21 mutations cause a human cohesinopathy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

An atypical facial appearance and growth pattern in a child with Cornelia de Lange Syndrome: an intragenic deletion predicting loss of the N-terminal region of NIPBL.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cohesin: genomic insights into controlling gene transcription and development

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cohesin: its roles and mechanisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Overexpression of Separase induces aneuploidy and mammary tumorigenesis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cohesin mediates transcriptional insulation by CCCTC-binding factor

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Drosophila nipped-B protein supports sister chromatid cohesion and opposes the stromalin/Scc3 cohesion factor to facilitate long-range activation of the cut gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Pyrosequencing: an accurate detection platform for single nucleotide polymorphisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Cohesin's binding to chromosomes depends on a separate complex consisting of Scc2 and Scc4 proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Sister-chromatid separation at anaphase onset is promoted by cleavage of the cohesin subunit Scc1

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

An ESP1/PDS1 complex regulates loss of sister chromatid cohesion at the metaphase to anaphase transition in yeast

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4173748

Recursive partitioning analysis (RPA) of prognostic factors in three Radiation Therapy Oncology Group (RTOG) brain metastases trials

6 July 2018

1 reference

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Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

6 July 2018

1 reference

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High rate of mosaicism in individuals with Cornelia de Lange syndrome.

21 January 2018

1 reference

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X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations

21 January 2018

1 reference

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The Deciphering Developmental Disorders (DDD) study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2014-102573

Facial diagnosis of mild and variant CdLS: Insights from a dysmorphologist survey.

21 January 2018

1 reference

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Mutational and genotype-phenotype correlation analyses in 28 Polish patients with Cornelia de Lange syndrome.

21 January 2018

1 reference

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Inadequate Management of Blood Pressure in a Hypertensive Population

21 January 2018

1 reference

12 December 2020

In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome

1 reference

12 December 2020

Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

1 reference

12 December 2020

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

1 reference

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Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25125236%20AND%20SRC:MED&resulttype=core&format=json